, Volume 113, Issue 2, pp 393-395
Date: 02 Mar 2008

BRCA1 E1644X: a deleterious mutation in an African American individual with early onset breast cancer

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Abstract

An African American individual with early onset breast cancer has a unique BRCA1 germline mutation, E1644X, that truncates the protein’s carboxy terminal region. DNA sequencing for E1644X mutation and five BRCA1 exon-11 single nucleotide polymorphisms showed tumor LOH. Clinical history suggests paternal transmission of the deleterious allele, and tumor polymorphisms provide some insight into the ancestral origins of the mutation.